Paganoni, S., Fournier, C. N., Macklin, E. A., Chibnik, L. B., Quintana, M., Saville, B. R., Detry, M. A., Vestrucci, M., Marion, J., McGlothlin, A., Ajroud-Driss, S., Chase, M., Pothier, L., Harkey, B. A., Yu, H., Sherman, A. V., Shefner, J. M., Hall, M., Kittle, G., … Torti, M. (2025). Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis. JAMA Network Open, 8(2), e2459058. https://doi.org/10.1001/jamanetworkopen.2024.59058

Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2025). Interaction between riluzole treatment and dietary glycemic index in the disease progression of amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52294

Larrea, D., Tamucci, K. A., Kabra, K., Velasco, K. R., Yun, T. D., Pera, M., Montesinos, J., Agrawal, R. R., Paradas, C., Smerdon, J. W., Lowry, E. R., Stepanova, A., Yoval-Sanchez, B., Galkin, A., Wichterle, H., & Area-Gomez, E. (2025). Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS). Nature Communications, 16(1). https://doi.org/10.1038/s41467-024-51578-1

Takeda, T., Her, Y.-R., Kim, J.-K., Jha, N. N., & Monani, U. R. (2025). A variant of the Hspa8 synaptic chaperone modifies disease in a SOD1G86R mouse model of amyotrophic lateral sclerosis. Experimental Neurology, 383, 115024. https://doi.org/10.1016/j.expneurol.2024.115024

Berry, J. D., Paganoni, S., Harms, M. B., Shneider, N., Andrews, J., Miller, T. M., Babu, S., Sherman, A. V., Harris, B. T., Provenzano, F. A., Phatnani, H. P., Shefner, J., Garret, M. A., Ladha, S. S., Tsou, A. Y., Mohan, P., Igne, C., & Bowser, R. (2024). Access for ALL in ALS: A large‐scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosis. Muscle & Nerve, 70(6), 1140–1150. Portico. https://doi.org/10.1002/mus.28244

van Tartwijk, F. W., Wunderlich, L. C. S., Mela, I., Makarchuk, S., Jakobs, M. A. H., Qamar, S., Franze, K., Kaminski Schierle, G. S., St George-Hyslop, P. H., Lin, J. Q., Holt, C. E., & Kaminski, C. F. (2024). Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development. The Journal of Neuroscience, 44(27), e2148232024. https://doi.org/10.1523/jneurosci.2148-23.2024

Pottinger, T. D., Motelow, J. E., Povysil, G., Moreno, C. A. M., Ren, Z., Phatnani, H., Harms, M. B., Kwan, J., Sareen, D., Wang, H.-I., Broach, J. R., Simmons, Z., Arcila-Londono, X., Parrott, S., Lee, E. B., Parrott, S., Deerlin, V. M. V., Fraenkel, E., … Ostrow, L. W. (2024). Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-024-10538-1

Lee, I., Nandakumar, R., & Haeusler, R. A. (2024). Alteration of serum bile acids in amyotrophic lateral sclerosis. Lipids, 59(4), 85–91. Portico. https://doi.org/10.1002/lipd.12390

Mitsumoto, H., Cheung, K., Oskarsson, B., Andrews, H. F., Jang, G. E., Andrews, J. A., Shah, J. S., Fernandes, J. A., McElhiney, M., & Santella, R. M. (2023). Randomized double-blind personalized N-of-1 clinical trial to test the safety and potential efficacy of TJ-68 for treating muscle cramps in amyotrophic lateral sclerosis (ALS): study protocol for a TJ-68 trial. Trials, 24(1). https://doi.org/10.1186/s13063-023-07424-8

Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2023). Higher Glycemic Index and Glycemic Load Diet Is Associated with Slower Disease Progression in Amyotrophic Lateral Sclerosis. Annals of Neurology, 95(2), 217–229. Portico. https://doi.org/10.1002/ana.26825

Roggenbuck, J., Eubank, B. H. F., Wright, J., Harms, M. B., & Kolb, S. J. (2023). Evidence‐based consensus guidelines for ALS genetic testing and counseling. Annals of Clinical and Translational Neurology, 10(11), 2074–2091. Portico. https://doi.org/10.1002/acn3.51895

Dilliott, A. A., Al Nasser, A., Elnagheeb, M., Fifita, J., Henden, L., Keseler, I. M., Lenz, S., Marriott, H., Mccann, E., Mesaros, M., Opie-Martin, S., Owens, E., Palus, B., Ross, J., Wang, Z., White, H., Al-Chalabi, A., Andersen, P. M., … Benatar, M. (2023). Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5–6), 420–435. https://doi.org/10.1080/21678421.2023.2173015

Di Maio, A., Nuzzo, T., Gilio, L., Serra, M., Buttari, F., Errico, F., De Rosa, A., Bassi, M. S., Morelli, M., Sasabe, J., Sulzer, D., Carta, M., Centonze, D., & Usiello, A. (2023). Homeostasis of serine enantiomers is disrupted in the post-mortem caudate putamen and cerebrospinal fluid of living Parkinson’s disease patients. Neurobiology of Disease, 184, 106203. https://doi.org/10.1016/j.nbd.2023.106203

Mitsumoto, H., Jang, G., Lee, I., Simmons, Z., Sherman, A. V., Heitzman, D., Sorenson, E., Cheung, K., Andrews, J., Harms, M., Shneider, N. A., Santella, R., Paganoni, S., Ajroud-Driss, S., Fernandes, J. A. M., Burke, K. M., Gwathmey, K., Habib, A. A., … Maragakis, N. J. (2022). Primary lateral sclerosis natural history study – planning, designing, and early enrollment. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5–6), 394–404. https://doi.org/10.1080/21678421.2022.2161912

Shefner, J. M., Al-Chalabi, A., Andrews, J. A., Chio, A., De Carvalho, M., Cockroft, B. M., Corcia, P., Couratier, P., Cudkowicz, M. E., Genge, A., Hardiman, O., Heiman-Patterson, T., Henderson, R. D., Ingre, C., Jackson, C. E., Johnston, W., Lechtzin, N., Ludolph, A., Maragakis, N. J., … Rudnicki, S. A. (2023). COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5–6), 523–534. https://doi.org/10.1080/21678421.2023.2216223

Gebrehiwet, P., Meng, L., Rudnicki, S. A., Sarocco, P., Wei, J., Wolff, A. A., Butzner, M., Chiò, A., Andrews, J. A., Genge, A., Hughes, D. A., Jackson, C. E., Lechtzin, N., Miller, T. M., & Shefner, J. M. (2023). Health utilities and quality-adjusted life years for patients with amyotrophic lateral sclerosis receiving reldesemtiv or placebo in FORTITUDE-ALS. Journal of Medical Economics, 26(1), 488–493. https://doi.org/10.1080/13696998.2023.2192588

Lee, I., Stingone, J. A., Chan, R. B., & Mitsumoto, H. (2023). Utilizing machine learning and lipidomics to distinguish primary lateral sclerosis from amyotrophic lateral sclerosis. Muscle & Nerve, 67(4), 306–310. Portico. https://doi.org/10.1002/mus.27797

Humphrey, J., Venkatesh, S., Hasan, R., Herb, J. T., de Paiva Lopes, K., Küçükali, F., Byrska-Bishop, M., Evani, U. S., Narzisi, G., Fagegaltier, D., Sleegers, K., Phatnani, H., Knowles, D. A., Fratta, P., & Raj, T. (2022). Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes. Nature Neuroscience, 26(1), 150–162. https://doi.org/10.1038/s41593-022-01205-3

Thakore, N. J., Lapin, B. R., Mitsumoto, H., & Pooled Resource Open‐Access ALS Clinical Trials Consortium. (2022). Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle & Nerve, 66(6), 702–708. Portico. https://doi.org/10.1002/mus.27724

McMillan, C. T., Wuu, J., Rascovsky, K., Cosentino, S., Grossman, M., Elman, L., Quinn, C., Rosario, L., Stark, J. H., Granit, V., Briemberg, H., Chenji, S., Dionne, A., Genge, A., Johnston, W., Korngut, L., Shoesmith, C., Zinman, L., … Benatar, M. (2022). Defining cognitive impairment in amyotrophic lateral sclerosis: an evaluation of empirical approaches. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23(7–8), 517–526. https://doi.org/10.1080/21678421.2022.2039713

Parks, R. M., Nunez, Y., Balalian, A. A., Gibson, E. A., Hansen, J., Raaschou-Nielsen, O., Ketzel, M., Khan, J., Brandt, J., Vermeulen, R., Peters, S., Goldsmith, J., Re, D. B., Weisskopf, M. G., & Kioumourtzoglou, M.-A. (2022). Long-term Traffic-related Air Pollutant Exposure and Amyotrophic Lateral Sclerosis Diagnosis in Denmark: A Bayesian Hierarchical Analysis. Epidemiology, 33(6), 757–766. https://doi.org/10.1097/ede.0000000000001536

Miller, T. M., Cudkowicz, M. E., Genge, A., Shaw, P. J., Sobue, G., Bucelli, R. C., Chiò, A., Van Damme, P., Ludolph, A. C., Glass, J. D., Andrews, J. A., Babu, S., Benatar, M., McDermott, C. J., Cochrane, T., Chary, S., Chew, S., Zhu, H., Wu, F., … Fradette, S. (2022). Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 387(12), 1099–1110. https://doi.org/10.1056/nejmoa2204705

Sun, J., Ludvigsson, J. F., Ingre, C., Piehl, F., Wirdefeldt, K., Zagai, U., Ye, W., & Fang, F. (2022). Hospital-treated infections in early- and mid-life and risk of Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis: A nationwide nested case-control study in Sweden. PLOS Medicine, 19(9), e1004092. https://doi.org/10.1371/journal.pmed.1004092

Mitsumoto, H., Kasarskis, E. J., & Simmons, Z. (2022). Hastening the Diagnosis of Amyotrophic Lateral Sclerosis. Neurology, 99(2), 60–68. https://doi.org/10.1212/wnl.0000000000200799

Miller, R. G., Zhang, R., Bracci, P. M., Azhir, A., Barohn, R., Bedlack, R., Benatar, M., Berry, J. D., Cudkowicz, M., Kasarskis, E. J., Mitsumoto, H., Manousakis, G., Walk, D., Oskarsson, B., Shefner, J., & McGrath, M. S. (2022). Phase 2B randomized controlled trial of NP001 in amyotrophic lateral sclerosis: Pre‐specified and post hoc analyses. Muscle & Nerve, 66(1), 39–49. Portico. https://doi.org/10.1002/mus.27511

Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., … Fradette, S. (2022). Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study. Neurotherapeutics, 19(4), 1248–1258. https://doi.org/10.1007/s13311-022-01237-4

Bose, K., Maity, A., Ngo, K. H., Vandana, J. J., Shneider, N. A., & Phan, A. T. (2022). Formation of RNA G-wires by G4C2 repeats associated with ALS and FTD. Biochemical and Biophysical Research Communications, 610, 113–118. https://doi.org/10.1016/j.bbrc.2022.03.162

Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119

Kumar, J. S. D., Molotkov, A., Kim, J., Carberry, P., Idumonyi, S., Castrillon, J., Duff, K., Shneider, N. A., & Mintz, A. (2022). Preclinical evaluation of a microtubule PET ligand [11C]MPC-6827 in tau and amyotrophic lateral sclerosis animal models. Pharmacological Reports, 74(3), 539–544. https://doi.org/10.1007/s43440-022-00359-y

Mehta, P., Raymond, J., Han, M. K., Larson, T., Berry, J. D., Paganoni, S., Mitsumoto, H., Bedlack, R. S., & Horton, D. K. (2021). Recruitment of Patients With Amyotrophic Lateral Sclerosis for Clinical Trials and Epidemiological Studies: Descriptive Study of the National ALS Registry’s Research Notification Mechanism. Journal of Medical Internet Research, 23(12), e28021. https://doi.org/10.2196/28021

Zhang, M., Gelfman, S., Martins Moreno, C. A., McCarthy, J. M., Harms, M. B., Goldstein, D. B., & Allen, A. S. (2021). Focused goodness of fit tests for gene set analyses. Briefings in Bioinformatics, 23(1). https://doi.org/10.1093/bib/bbab472